Canonical Allele Identifier: CA2583634763
Gene: CERS1 HGNC NCBI
GDF1 HGNC NCBI

Linked Data

gnomAD v4: 19-18869116-GCCCAGCAGCTCCGCGCGCACTGGCGGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18869122_18869148del , CM000681.2:g.18869122_18869148del GRCh38
NC_000019.9:g.18979931_18979957del , CM000681.1:g.18979931_18979957del GRCh37
NC_000019.8:g.18840931_18840957del NCBI36
NG_012070.1:g.32002_32028del
NG_033056.1:g.32002_32028del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623882.4:c.*842_*868del (CERS1) MANE Select ENSP00000485308.1:n.*842_*868del
ENST00000247005.8:c.573_599del (GDF1) MANE Select ENSP00000247005.5:p.Pro192_Gly200del
ENST00000247005.7:c.573_599del (GDF1) ENSP00000247005.5:p.Pro192_Gly200del
ENST00000623882.3:c.*842_*868del (CERS1) ENSP00000485308.1:n.*842_*868del
ENST00000623927.1:c.573_599del (CERS1) ENSP00000485582.1:p.Pro192_Gly200del
NM_001492.5:c.573_599del (GDF1) NP_001483.3:p.Pro192_Gly200del
NM_021267.4:c.*842_*868del (CERS1) NP_067090.1:n.*842_*868del
NM_001492.6:c.573_599del (GDF1) MANE Select NP_001483.3:p.Pro192_Gly200del
NM_021267.5:c.*842_*868del (CERS1) MANE Select NP_067090.1:n.*842_*868del
NM_001387438.1:c.573_599del (GDF1) NP_001374367.1:p.Pro192_Gly200del
NM_001387440.1:c.*1434_*1460del (CERS1) NP_001374369.1:n.*1434_*1460del
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